Table 1.

Summary of patient’s CNVs detected by chromosomal microarray

Chromosome region	Copy number variation	Size	Breakpointsa	OMIM disease-causing genes involved	Inheritance	Role
2q34	Duplication	432 kb	210,021,463–210,453,149	/	Father	Likely benign
5q21.3q22.2	Deletion	3.6 Mb	108,730,323–112,313,646	SLC25A4, WDR36, APC	De novo	Pathogenic
7q21.12	Duplication	307 kb	87,811,283–88,118,091	ADAM22	Mother	Likely benign
22q11.21	Deletion	2.5 Mb	18,919,942–21,440,514	PRODH, SLC25A1, CDC45L, GP1BB, TBX1, TXNRD2, COMT, TANGO2, RTN4R, SCARF2, PI4KA, HCF2	De novo	Pathogenic

^aThe breakpoints are reported according to the 37 build (March 2009) of the Human Genome Reference consortium (GRch37/hg19)